Congenital megacolon (Hirschsprung's disease).

Abstract

For the past sixty years the term “Hirschsprung's disease” has been used to describe enlargement of the colon exclusive of megacolon due to demonstrable organic disease. In 1887, Hirschsprung published a paper entitled “Sluggishness of Stool in the Newborn Resulting from Dilatation and Hypertrophy of the Colon.” In it he correlated the clinical and pathologic findings in 2 male infants who presented essentially the same clinical picture and course. Both had constipation and abdominal distention from birth and both died, at seven and eleven months of age, respectively. In the pathologic specimens of the colon in these 2 cases, hypertrophy of the bowel, inflammation, edema, and ulcerations of the mucosa were observed; only casual mention is made of the normal appearing rectosigmoid area. Hirschsprung concluded that the primary disease process involved the dilated portion of the colon, causing retention of gas and feces, and thought that the disease process was due to a congenital abnormality. Various analogous cases had been reported prior to 1887, one by Fredricus Ruysch in the 17th century. Hirschsprung, however, was the first to establish the condition as a disease entity. Although in the early reported cases of congenital megacolon the pathologic studies were concerned chiefly with the dilated colon, sporadic reports did appear in which attention was directed to a narrowed segment of colon distal to the dilated portion. The first mention of abnormality in the distribution of ganglion cells in the bowel was made by Tittel in 1901. He described scanty ganglion cells of the myenteric plexus at various levels of the large intestine of a fifteen-month-old infant and noted that in the ileum the ganglion cells were normal. He thought that the abnormal state of the myenteric plexus might be a cause of abnormal peristalsis. In 1920, Dalla Valle reported a case of megacolon in an infant of ten and a half months and in 1924 described a second case in a brother of the first patient. Many microscopic sections at various levels of the large bowel were examined from both children, special attention being paid to the ganglion cells of Auerbach's plexus. This was the first time that a comprehensive study of the ganglion cells of the myenteric plexus had been made. In both of these infants ganglion cells were absent in the normal appearing rectum and sigmoid but were present in the remainder of the colon, though in the first case they were few and small in the ascending portion. In 1935, Perrot and Danon reported the case of a fifteen-day-old child in whom ganglion cells were scarce from the terminal ileum to the splenic flexure. It was their belief that hypoplasia of Auerbach's plexus had produced a functional obstruction. Robertson and Kernohan, in 1938, found ganglion cells to be scanty or absent in a case of Hirschsprung's disease, but details as to where the deficiency occurred are not given.